Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.C109*
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CRYGC

NM_020989.4:p.C109*

Associated Papers

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.

Ma S et al.

Frontiers in Medicine, 2025

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F et al.

International Journal of Molecular Sciences, 2023

A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.

Zhou Z et al.

Ophthalmology Science, 2022

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Kandaswamy DK et al.

Ophthalmic Genetics, 2020

Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.

Taylan Sekeroglu H et al.

Molecular Syndromology, 2020

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.

Zhong Z et al.

Scientific Reports, 2017

A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

Rao Y et al.

Molecular Vision, 2017

Genetics of Congenital Cataract.

Pichi F et al.

Developments in Ophthalmology, 2016

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.

González-Huerta LM et al.

Gene, 2013

A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.

Li XQ et al.

Human Mutation, 2012

A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.

Guo Y et al.

Molecular Vision, 2012

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.

Kumar M et al.

Molecular Vision, 2011

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Zhang L et al.

Molecular Vision, 2009

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yao K et al.

Molecular Vision, 2008

A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.

Gonzalez-Huerta LM et al.

Molecular Vision, 2007

[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].

PECCININI D

Arquivos Brasileiros De Oftalmologia, 1964

The genetic and molecular basis of congenital cataract.

Santana A et al.

Arquivos Brasileiros De Oftalmologia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."